|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports.
|
24811089 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).
|
24986690 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pathological and clinical entities with the recurrent JAK2 V617F mutation present in ∼98% of patients with polycythemia vera and ∼50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
25259626 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden.
|
23537216 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most prevalent mutation identified is a gain-of-function mutation in the Janus kinase (JAK) family, JAK2 V617F, which has been identified in more than half of patients with myelofibrosis.
|
23307549 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome.
|
23644853 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The influence of JAK2 V617F mutation on blast transformation (BT) and overall survival (OS) in primary myelofibrosis (PMF) is controversial.
|
23555782 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans.
|
23313046 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
23666689 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation.
|
23994117 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), most of which are characterized by a somatic point mutation, V617F, in the janus kinase 2 (JAK2) gene.
|
23430670 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (MPD) including polycythemia vera and essential thrombocythemia and idiopathic myelofibrosis.
|
23391844 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays.
|
23057517 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells.
|
23445613 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The chronic myeloproliferative neoplasms (MPNs), are characterized by a Janus Kinase (JAK)-2 V617F point mutation but this molecular abnormality does not explain by itself the pathogenesis of these disorders, or the phenotypic diversity associated with essential thrombocythemia, polycythemia vera (PV), and myelofibrosis.
|
24290217 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML.
|
22818858 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation.
|
22304488 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis.
|
22234689 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A small but significantly increased proportion of Chinese had the JAK2(V617F) mutation but no difference in the frequency of haplotypes associated with PMF in whites.
|
22262778 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because JAK2 inhibitors are not specific for JAK2(V617F), responses have also been observed in JAK2(V617F) -negative MPNs because of the inhibition of wild-type JAK2, which is also likely responsible for the induction of cytopenias in patients with MF and for the normalization of peripheral blood counts observed in patients with ET or PV.
|
21766300 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly.
|
22364960 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These changes and the resultant clinical research are discussed in this article where we argue that discovery of the JAK2 V617F mutation has signalled the much delayed change in therapeutic paradigm for myelofibrosis and possibly other MPNs from palliation and allowing us to move closer to, but not yet attain, a cure.
|
22463737 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
|
21904853 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Collectively, these results indicate that G6 is efficacious in Jak2-V617F-mediated myelofibrosis, and given its bone marrow efficacy, it may alter the natural history of this disease.
|
22796437 |
2012 |